Related gene-specific medical variations for Gene (Select 7163) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328266	NM_001025253.3(TPD52):c.347C>T (p.Ser116Phe)	TPD52, TPD52-MRPS28 (S116F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181513	NM_001025253.3(TPD52):c.250G>A (p.Ala84Thr)	TPD52, TPD52-MRPS28 (A84T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596476	NM_001025253.3(TPD52):c.205C>T (p.Arg69Trp)	TPD52, TPD52-MRPS28 (R77W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464021	NM_001025253.3(TPD52):c.349G>A (p.Val117Ile)	TPD52, TPD52-MRPS28 (V157I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457924	NM_001025253.3(TPD52):c.343T>G (p.Ser115Ala)	TPD52, TPD52-MRPS28 (S115A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383334	NM_001025253.3(TPD52):c.95C>T (p.Ser32Leu)	TPD52, TPD52-MRPS28 (S32L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329346	NM_001025253.3(TPD52):c.617G>A (p.Ser206Asn)	TPD52, TPD52-MRPS28 (S206N +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1808346	GRCh37/hg19 8q21.13(chr8:80956545-81031085)x1	TPD52	Copy number loss	not provided	GUncertain significance
Select item 709422	NM_001025253.3(TPD52):c.505-8T>C	TPD52, TPD52-MRPS28	Single nucleotide variant (intron variant)	not provided	GBenign